Linked Data
dbSNP Id:
rs1867456470
gnomAD v3:
11-67585678-CATGTGT-C
gnomAD v4:
11-67585678-CATGTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585679_67585684del , CM000673.2:g.67585679_67585684del | GRCh38 |
| NC_000011.9:g.67353150_67353155del , CM000673.1:g.67353150_67353155del | GRCh37 |
| NC_000011.8:g.67109726_67109731del | NCBI36 |
| NG_012075.1:g.7085_7090del , LRG_723:g.7085_7090del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.336+438_336+443del | ENSP00000381604.1:n.336+438_336+443del | |
| ENST00000398606.10:c.337-425_337-420del MANE Select | ENSP00000381607.3:n.337-425_337-420del | |
| ENST00000646888.1:c.*53-425_*53-420del | ENSP00000494477.1:n.*53-425_*53-420del | |
| ENST00000398603.5:c.336+438_336+443del | ENSP00000381604.1:n.336+438_336+443del | |
| ENST00000398606.7:c.337-425_337-420del | ENSP00000381607.3:n.337-425_337-420del | |
| ENST00000467591.1:n.448-425_448-420del | ||
| ENST00000494593.1:n.1132-425_1132-420del | ||
| ENST00000498765.5:c.400-425_400-420del | ||
| NM_000852.3:c.337-425_337-420del , LRG_723t1:c.337-425_337-420del | NP_000843.1:n.337-425_337-420del | |
| NM_000852.4:c.337-425_337-420del MANE Select | NP_000843.1:n.337-425_337-420del |